Linked Data
ClinVar Variation Id:
310548
ClinVar RCV Id:
RCV000390610
dbSNP Id:
rs75351379
gnomAD v2:
12-8755186-T-C
gnomAD v3:
12-8602590-T-C
gnomAD v4:
12-8602590-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8602590T>C , CM000674.2:g.8602590T>C | GRCh38 |
| NC_000012.11:g.8755186T>C , CM000674.1:g.8755186T>C | GRCh37 |
| NC_000012.10:g.8646453T>C | NCBI36 |
| NG_011588.1:g.15257A>G , LRG_17:g.15257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.*1694A>G | ENSP00000445691.1:n.*1694A>G | |
| ENST00000543081.6:c.*1737A>G | ENSP00000439103.2:n.*1737A>G | |
| ENST00000545576.2:n.2692A>G | ||
| ENST00000696246.1:c.*1694A>G | ENSP00000512504.1:n.*1694A>G | |
| ENST00000696271.1:n.2703A>G | ||
| ENST00000696272.1:c.*1694A>G | ENSP00000512515.1:n.*1694A>G | |
| ENST00000696273.1:c.*1694A>G | ENSP00000512516.1:n.*1694A>G | |
| ENST00000229335.11:c.*1694A>G MANE Select | ENSP00000229335.6:n.*1694A>G | |
| ENST00000229335.10:c.*1694A>G | ENSP00000229335.6:n.*1694A>G | |
| NM_020661.2:c.*1694A>G , LRG_17t1:c.*1694A>G | NP_065712.1:n.*1694A>G | |
| NM_001330343.1:c.*1694A>G | NP_001317272.1:n.*1694A>G | |
| NM_020661.3:c.*1694A>G | NP_065712.1:n.*1694A>G | |
| NM_020661.4:c.*1694A>G MANE Select | NP_065712.1:n.*1694A>G | |
| NM_001330343.2:c.*1694A>G | NP_001317272.1:n.*1694A>G |